Varaico: Literature-Extracted Genetic Variants

Gene:RANBP2
Variant:p.A1806_K1808del3

RANBP2

499 papers

RefSeq Summary

RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other pro...

Pfam Domains

Ran_BP1aa 1183–1304UCSCRanBP1 domain
Zn_ribbon_RanBPaa 1351–1381UCSCZn-finger in Ran binding protein and others
Zn_ribbon_RanBPaa 1415–1444UCSCZn-finger in Ran binding protein and others
Zn_ribbon_RanBPaa 1479–1508UCSCZn-finger in Ran binding protein and others
Zn_ribbon_RanBPaa 1543–1572UCSCZn-finger in Ran binding protein and others
Zn_ribbon_RanBPaa 1606–1635UCSCZn-finger in Ran binding protein and others

Gene Aliases

HGNC Name

RAN binding protein 2

HGNC Previous Symbol

ANE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006267.5
p.A1806_K1808del3
c.5416_5423del9
Surrounding Variants
1 paper
NM_006267.5
p.A1806_K1808delFs
c.5416_5423del8
1 paper
NM_006267.5
p.D1805N
c.5413G>A
1 paper
NM_006267.5
p.K1808E
c.5422A>G
1 paper
NM_006267.5
p.P1809R
c.5426C>G
1 paper
NM_006267.5
p.C1801Y
c.5402G>A
1 paper
NM_006267.5
p.A1815T
c.5443G>A
1 paper
NM_006267.5
p.N1794S
c.5381A>G
1 paper
NM_006267.5
p.S1819L
c.5456C>T
1 paper
NM_006267.5
p.G1834V
c.5501G>T
1 paper
NM_006267.5
p.I1767T
c.5300T>C
4 papers
NM_006267.5
p.P1750R
c.5249C>G
1 paper
NM_006267.5
p.H1863L
c.5588A>T
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